Variant report

Variant	rs568903166
Chromosome Location	chr22:30344865-30344866
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30330994..30332769-chr22:30343214..30346064,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1064489	chr22:30316627-30361881	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv869764	chr22:30323649-30367813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv523696	chr22:30326102-30381789	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1058511	chr22:30330447-30361881	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763694	chr22:30330459-30361881	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv588883	chr22:30333405-30365842	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv3591	chr22:30344208-30388897	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
2	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr22:30332600-30345000	Weak transcription	Pancreas	Pancrea
4	chr22:30332600-30347400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:30334200-30374800	Weak transcription	Thymus	Thymus
6	chr22:30340000-30345000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr22:30340000-30345000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr22:30340000-30346800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr22:30340200-30351000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:30340200-30355400	Weak transcription	Fetal Intestine Small	intestine
11	chr22:30340200-30374800	Weak transcription	Fetal Thymus	thymus
12	chr22:30340600-30347400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr22:30340600-30347600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr22:30340600-30347600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:30340600-30360400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr22:30340600-30370000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr22:30340600-30375000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr22:30340800-30350400	Weak transcription	Stomach Mucosa	stomach
19	chr22:30340800-30376000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr22:30341200-30345400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr22:30341200-30352200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:30341200-30353600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr22:30341400-30346600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr22:30341400-30348000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr22:30341400-30351000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr22:30341400-30354400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr22:30341400-30355200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr22:30341800-30347600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr22:30342200-30345000	Enhancers	Brain Angular Gyrus	brain
30	chr22:30342200-30345200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr22:30342600-30345000	Weak transcription	Psoas Muscle	Psoas
32	chr22:30342600-30345800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr22:30342600-30350400	Weak transcription	Aorta	Aorta
34	chr22:30342600-30350400	Weak transcription	Right Atrium	heart
35	chr22:30342600-30352200	Weak transcription	Gastric	stomach
36	chr22:30342600-30375200	Weak transcription	Spleen	Spleen
37	chr22:30343000-30345000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr22:30343000-30345000	Enhancers	Brain Germinal Matrix	brain
39	chr22:30343200-30345000	Enhancers	Fetal Brain Female	brain
40	chr22:30343200-30345000	Enhancers	Fetal Lung	lung
41	chr22:30343400-30345000	Enhancers	Brain Cingulate Gyrus	brain
42	chr22:30343600-30345400	Enhancers	HSMM	muscle
43	chr22:30343800-30345000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr22:30343800-30345000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr22:30343800-30345200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr22:30343800-30345400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr22:30343800-30345400	Enhancers	Fetal Brain Male	brain
48	chr22:30343800-30345400	Enhancers	NH-A	brain
49	chr22:30343800-30345600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr22:30343800-30346200	Enhancers	Stomach Smooth Muscle	stomach

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